Navigation Links
Enzyme Responsible For Congenital Blindness

Researchers from UCLA had found out that a deficient gene that is also responsible for the presence of an enzyme in the vision cycle that causes congenital blindness in children. The researchers’ study regarding the congenital blinding disease // called Leber congenital amaurosis is published in the August issue of the journal Cell.

Researchers suggest that replacement of RPE65, which is lacking in these patients, by gene therapy should correct the blindness in these children, as was observed in mice and dogs with RPE65 mutations, said the researchers. This is a major breakthrough in understanding the visual cycle. It has ramifications for several inherited blinding diseases caused by mutations in visual cycle genes.

The newly identified isomerase enzyme plays a crucial role in the regeneration of rhodopsin visual pigment in the retina after light exposure. Rhodopsin contains a light-absorbing molecule called 11 cis retinaldehyde, related to vitamin A, which is converted upon light absorption to all trans retinaldehyde in a process called photo bleaching. This conversion is the first step in visual perception.

Photo bleaching leaves the rhodopsin insensitive to light until the all trans retinaldehyde is converted, or "isomerized," back into 11 cis retinaldehyde, which completes the visual cycle. Scientists have for two decades been attempting to identify the retinoid isomerase enzyme that catalyzes this regeneration of 11 cis retinaldehyde. Scientists have also been stumped by the function of the Rpe65 protein

The researchers had performed an expression screen in cultured human cells, looking for a gene that caused these cells to convert vitamin A into 11 cis retinol.

The researchers are now studying the effects on retinoid isomerase activity of specific disease causing mutations in the RPE65 gene, which should provide more data on the cause of Leber congenital amaurosis and on how the Rpe65 protein works. The
'"/>




Page: 1 2

Related medicine news :

1. Enzyme may be target for obesity drugs
2. Researchers trick Alzheimers Enzyme
3. Enzyme stimulates growth of adult stem cells
4. Enzyme may aid hold back disease
5. Enzyme help destroy cancer cell
6. Enzyme Associated with Memory
7. Enzyme Associated With Memory
8. Brain Enzyme Found To Regulate Weight
9. New Enzyme Identified For Arthritis
10. Enzyme for treatment of arthritis
11. An Enzyme That Turns a One –time Experience into a long-time Memor
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Enzyme Responsible For Congenital Blindness

(Date:8/27/2014)... 27, 2014 Shawna's new book, released ... about Seed Digging, which a brand-new technique she created. ... yet works to bring permanent healing quickly. , According ... mental health disorders cured on a daily basis. It ... minds and find incredible inner peace with only a ...
(Date:8/27/2014)... Recently, iFitDress.com, a professional company of women’s dresses ... romantic bridal gowns . To top it all ... to 66 percent off) when buying the company’s new ... been updated with these new items. All its online ... all clients can gain an enjoyable shopping experience on ...
(Date:8/27/2014)... August 27, 2014 Seventy-three members of ... (SoP) celebrated the beginning of their careers as healthcare ... August 23. Students entering a four-year PharmD program traditionally ... ?to welcome them into the profession as colleagues dedicated ... held at the Garrison Theater in Claremont, Calif., KGI ...
(Date:8/27/2014)... Clara, CA (PRWEB) August 27, 2014 ... Mexico vs. Chile tickets at Levi’s Stadium in Santa ... located in Santa Clara, California just opened in July and ... 6 when Mexico takes on Chile. These are two of ... at the 2014 World Cup and will look to continue ...
(Date:8/27/2014)... Dr. Stewart Shofner and Dr. Kevin ... suffering from impaired vision. Some of the most common ... . Recently, Dr. Shofner has noticed a significant increase ... and also online. To help patients understand the facts, ... , 1)    Myth: People with perfect vision won’t develop glaucoma. ...
Breaking Medicine News(10 mins):Health News:Shawna Burns, Counselor, Releases Debut Book, "Seed Digging," to Improve Lives of Children and Adults with Addictions and Mental Health Disorders 2Health News:Promotion For Romantic Bridal Gowns Launched By Professional Company iFitDress.com 2Health News:Founding Class of the KGI School of Pharmacy Formally Welcomed into the Profession at a Traditional White Coat Ceremony 2Health News:Mexico vs. Chile Tickets at Levi’s Stadium: Ticket Down Cuts Ticket Prices for Inaugural Soccer Match between Chile and Mexico in Santa Clara 2Health News:Mexico vs. Chile Tickets at Levi’s Stadium: Ticket Down Cuts Ticket Prices for Inaugural Soccer Match between Chile and Mexico in Santa Clara 3Health News:Renowned Eye Surgeon Dr. Stewart Shofner Debunks Top Five Myths About Glaucoma 2Health News:Renowned Eye Surgeon Dr. Stewart Shofner Debunks Top Five Myths About Glaucoma 3Health News:Renowned Eye Surgeon Dr. Stewart Shofner Debunks Top Five Myths About Glaucoma 4
... been the nation of high discussion during the G8 Summit. ... WHO started its campaign “3 by 5” antiretroviral campaign prior ... on rich countries to provide more funds and importance to ... high profile of Africa’s dire problems overshadow some of the ...
... combat HIV infection among its cadres, the Border Security ... border outpost along West Bengal's international boundary. // ... initiative launched in collaboration with the state AIDS control ... BSF troopers. ,"We are setting up these condom ...
... at the University of Texas Medical Branch at Galveston (UTMB) ... blood that cause the “mad cow disease” in people. According ... the prions that are there in the blood causing the ... online version of Nature Medicine. The findings from the study ...
... Scientists from Indiana University had found that doing household ... the car etc could prevent hypertension and conditions of ... that regardless of intensity, four hours of accumulated daily ... participants' blood pressure by a category -- from hypertensive ...
... is an endocrine disorder characterized by nervous irritability, ... and pelvic congestion. ,For the first time, ... and dosing regimen has been found effective in ... most severe form of premenstrual syndrome. ...
... system has the remarkable ability to discriminate between self ... the immune system, the human body would have lost ... death. // ,The immune system produces certain ... cancer cells, effectively labeling them as "bad" so that ...
Cached Medicine News:Health News:Africa Is Not The Only Continent Struggling Against AIDS 2Health News:Free Condom Counters For Border Security Force Cadres 2Health News:They Call It PMS Because Mad Cow Disease Was Already Taken 2Health News:Fighting against disease as easy as eating eggs 2
(Date:8/27/2014)... Research and Markets  has announced the ... 2014" report to their offering. ... professional and in-depth study on the current state of ... provides a basic overview of the industry including definitions, ... market analysis is provided for the international markets including ...
(Date:8/27/2014)... Aug. 27, 2014   Los Angeles orthodontics ... Aura to patients who want to make their treatment ... at the OrthoSpaceship, all patients have a powerful tool ... system can be used by most patients with all ... progress by using the AcceleDent® Aura system for a ...
(Date:8/27/2014)... 27, 2014 ISPE , the International ... released a preview of its Drug Shortages Prevention ... drug shortages and maintain a robust and reliable supply ... Plan, a first for the industry, was developed by ... and describes how industry can best prevent drug shortages ...
Breaking Medicine Technology:Global Pulse Oximeter Industry Report 2014 2Los Angeles Orthodontist, Dr. Isaac Hakim, is Now Offering AcceleDent Aura 2ISPE Releases First Look at its Plan to Prevent Drug Shortages 2ISPE Releases First Look at its Plan to Prevent Drug Shortages 3ISPE Releases First Look at its Plan to Prevent Drug Shortages 4
... stylish Thalia eyeglasses eyewear collection ... appeal of the renowned Latin ... of eyeglasses eyewear is ultra-sleek, ... ophthalmic styles that include decorative ...
... a remarkable sunwear collection, affectionately known as ... of the benefits of the Titan Minimal ... top quality sun lenses that offer 100% ... They provide the most comfortable, lightweight sun ...
... The name Silhouette stands for ... It all began in 1964 with ... five and a novel, pioneering approach: ... a simple implement to improve faulty ...
... something that almost all retailers must address ... with VALUE - not just in price ... Research shows that National is among the ... ,National offers an exciting collection of contemporary ...
Medicine Products: